scholarly journals A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

2018 ◽  
Vol 2018 ◽  
Author(s):  
Benjamin Kwan ◽  
Bernard Champion ◽  
Steven Boyages ◽  
Craig F Munns ◽  
Roderick Clifton-Bligh ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Normal Serum ◽  
Mirror Image ◽  
List Type ◽  
Basal Ganglia Calcification ◽  
Proper Management ◽  
Serum Pth

Summary Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members. Learning points: ADH1 is a rare cause of hypoparathyroidism due to activating CASR mutations and is the mirror image of familial hypocalciuric hypercalcaemia. In patients with ADH1, symptoms of hypocalcaemia may be mild or absent. Basal ganglia calcification may be present in over a third of patients. CASR mutation analysis is required for diagnostic confirmation and to facilitate proper management, screening and genetic counselling of affected family members. Treatment with calcium and activated vitamin D analogues should be reserved for symptomatic individuals due to the risk of exacerbating hypercalciuria and its associated complications.

scholarly journals Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report

2019 ◽  
Vol 7 (12) ◽  
pp. 1483-1491
Author(s):  
Seiju Kobayashi ◽  
Kumiko Utsumi ◽  
Masaru Tateno ◽  
Tomo Iwamoto ◽  
Tomonori Murayama ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Family Members ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification ◽  
Longitudinal Observation

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

2019 ◽  
Vol 159 (3) ◽  
pp. 130-136
Author(s):  
Maha S. Zaki ◽  
Ola M. Eid ◽  
Maha M. Eid ◽  
Amal M. Mohamed ◽  
Inas S.M. Sayed ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Autosomal Dominant ◽  
De Novo ◽  
Susceptibility Loci ◽  
Loss Of Function ◽  
Subunit C ◽  
Autistic Behavior ◽  
Basal Ganglia Calcification ◽  
Severe Intellectual Disability ◽  
Brain Calcification

We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2, and LRP5, susceptibility loci SCZD2, SLEH1, and SHANK2, mitochondrial genes NDUFV1, NDUFS8, and TMEM126B, and many loss of function genes, including PHOX2A, CLPB, MED17, B3GNT1, LIPT2, and CLPB. However, the duplication did not involve Ribonuclease H2, subunit C (RNASEH2C) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification.

scholarly journals Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia

2014 ◽  
Vol 2014 ◽  
Author(s):  
Sudeep K Rajpoot ◽  
Carlos Maggi ◽  
Amrit Bhangoo
Keyword(s):  
Critical Care Unit ◽  
Autosomal Dominant ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Life Threatening ◽  
Severe Hyperkalemia ◽  
Female Baby ◽  
Learning Points ◽  
Pseudohypoaldosteronism Type

Summary Neonatal hyperkalemia and hyponatremia are medical conditions that require an emergent diagnosis and treatment to avoid morbidity and mortality. Here, we describe the case of a 10-day-old female baby presenting with life-threatening hyperkalemia, hyponatremia, and metabolic acidosis diagnosed as autosomal dominant pseudohypoaldosteronism type 1 (PHA1). This report aims to recognize that PHA1 may present with a life-threatening arrhythmia due to severe hyperkalemia and describes the management of such cases in neonates. Learning points PHA1 may present with a life-threatening arrhythmia. Presentation of PHA can be confused with congenital adrenal hyperplasia. Timing and appropriate medical management in the critical care unit prevented fatality from severe neonatal PHA.

scholarly journals Fahr’s disease: familial idiopathic basal ganglia calcification with and without extrapyramidal disorders

2020 ◽  
Vol 6 (2) ◽  
Author(s):  
Alberto Castagna ◽  
Carmen Ruberto ◽  
Rosa Paola Cerra ◽  
Laura Greco ◽  
Giovanni Ruotolo
Keyword(s):  
Basal Ganglia ◽  
Movement Disorders ◽  
Autosomal Dominant ◽  
Behavioral Alterations ◽  
Behavioral Alteration ◽  
Basal Ganglia Calcification ◽  
Fahr’S Disease ◽  
Fahr's Disease ◽  
Behavioral Abnormalities ◽  
Idiopathic Basal Ganglia Calcification

Fahr’s disease (FD), also known as familial idiopathic basal ganglia calcification, is a neurodegenerative disease affecting cerebral micro vessels, mainly in the basal ganglia. It mostly presents with movement disorders, dementia and behavioral abnormalities. It is considered hereditary with an autosomal dominant transmission. Fahr’s disease is often underestimated and under diagnosed. We reported the clinical differences found in two patients with Fahr’s Disease. In particular, we described a case of Fahr’s disease with behavioral alteration with extrapyramidal movement disorders, and a rare case of Fahr’s disease with cognitive and behavioral alterations in absence of extrapyramidal movement disorders.

Awareness of Preconception Care for Women with Type 1 Diabetes—From Family Members' Perspective

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1301-P
Author(s):  
CHAOFAN WANG ◽  
SIHUI LUO ◽  
XUEYING ZHENG ◽  
XILING HU ◽  
JINHUA YAN ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Preconception Care ◽  
Family Members

scholarly journals A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takuya Morikawa ◽  
Shiroh Miura ◽  
Takahisa Tateishi ◽  
Kazuhito Noda ◽  
Hiroki Shibata
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Pathogenic Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Nonsynonymous Variant ◽  
Japanese Family ◽  
Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

scholarly journals Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1)

1999 ◽  
pp. 475-480 ◽  
Author(s):  
N Hai ◽  
N Aoki ◽  
A Matsuda ◽  
T Mori ◽  
S Kosugi
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Family Members ◽  
Premature Stop Codon ◽  
Germline Mutations ◽  
Endocrine Tumors ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome of endocrine tumors involving the parathyroids, anterior pituitary and enteropancreatic neuroendocrine tissues, and is inherited in an autosomal dominant manner. Recently, the gene responsible for this syndrome, MEN1, was positionally cloned in 11q13. We aimed to assess the significance of MEN1 gene diagnostics in families with MEN1. DESIGN: Sixteen probands of familial MEN1 and their 40 family members were subjected to the study. METHODS: Full-length sequencing of the open reading frame and exon-intron boundaries in the MEN1 gene was performed with probands of familial MEN1. Family members were examined for the identified mutation in the proband. RESULTS: We identified heterozygous germline mutations of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the highest detectability of MEN1 mutations in familial MEN1 among studies that examined more than 10 families. Eleven kinds of the identified MEN1 germline mutations were novel. More than half were nonsense or frameshift mutations resulting in a premature stop codon (9/15; 60%), and no mutation hot spots or no apparent genotype-phenotype relationships were observed, in support of the results of other studies. We identified 40 mutant MEN1 gene carriers and 16 non-carriers in the course of the present study in those families. CONCLUSIONS: Analysis of the germline mutations in the MEN1 gene, providing significantly useful clinical information to probands and family members of MEN1, should be considered as a standard procedure and categorized as belonging to Group 1 cancer predisposition testing by the American Society of Clinical Oncology.

Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification

2014 ◽  
Vol 36 (9) ◽  
pp. 823-825 ◽  
Author(s):  
Makoto Ishitobi ◽  
Masao Kawatani ◽  
Mizuki Asano ◽  
Hirotaka Kosaka ◽  
Takashi Goto ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Basal Ganglia ◽  
Basal Ganglia Calcification ◽  
Autistic Patient ◽  
Idiopathic Basal Ganglia Calcification

scholarly journals Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype

2009 ◽  
Vol 4 ◽  
pp. BMI.S1115 ◽  
Author(s):  
Anthony J. Russo ◽  
Lauren Neville ◽  
Christine Wroge
Keyword(s):  
Gastrointestinal Disease ◽  
Family Members ◽  
Serum Levels ◽  
Normal Serum ◽  
Autistic Children ◽  
Respiratory Problems ◽  
Low Levels ◽  
Alpha 1 Antitrypsin ◽  
And Gender ◽  
Low Serum

Aim Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and controls. Subjects and Methods We used an indirect ELISA with monoclonal IgG to AAT to measure AAT serum concentrations in 71 members from 16 families of individuals with autism and 18 controls (no family history of autism). We used a duplex polymerase chain reaction to detect M, S and Z alleles for alpha-1 antitrypsin expression in 52 members of 12 of the above families. Results A significantly high number of autistic family members had lower than normal serum levels of AAT when compared to controls. Autistic children with regressive onset had significantly lower levels of AAT compared to controls, and a significant number of autistic children with low serum AAT also had hyperbilirubinemia, gastrointestinal disease and respiratory problems. We also found that a significantly high number of these individuals had the PiMZ genotype and correspondingly low levels of serum alpha-1 antitrypsin. Discussion Knowing that low levels of alpha-1 antitrypsin may be inherited, and that low levels of AAT may be associated with GI disease in autistic children, genotyping autistic children may help identify individuals susceptible to developing digestive problems.

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