Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

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A novel mutation in thePLCD1gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

British Journal of Dermatology ◽

10.1111/j.1365-2133.2012.10962.x ◽

2012 ◽

Vol 167 (4) ◽

pp. 946-949 ◽

Cited By ~ 8

Author(s):

M. Farooq ◽

M. Kurban ◽

O. Abbas ◽

O. Obeidat ◽

H. Fujikawa ◽

...

Keyword(s):

Autosomal Recessive ◽

Novel Mutation ◽

Aberrant Splicing

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Ellis-van Creveld Syndrome and Dyserythropoiesis

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-0680-ecsad ◽

2005 ◽

Vol 129 (5) ◽

pp. 680-682 ◽

Cited By ~ 1

Author(s):

Deven Scurlock ◽

Daniel Ostler ◽

Andy Nguyen ◽

Amer Wahed

Keyword(s):

Myelodysplastic Syndrome ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Case Reports ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Clinical Findings ◽

Cardiac Defects ◽

Ellis Van Creveld Syndrome ◽

Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

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X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Cytogenetic and Genome Research ◽

10.1159/000478922 ◽

2017 ◽

Vol 152 (3) ◽

pp. 111-116 ◽

Cited By ~ 6

Author(s):

Salvatore Savasta ◽

Giorgia Carlone ◽

Riccardo Castagnoli ◽

Francesca Chiappe ◽

Francesco Bassanese ◽

...

Keyword(s):

Gene Mutation ◽

Ectodermal Dysplasia ◽

Novel Mutation ◽

Nucleotide Position ◽

Hypohidrotic Ectodermal Dysplasia ◽

Nasal Bridge ◽

Mutation Database ◽

Exon 1 ◽

Male Karyotype ◽

Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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Insight to FBXO31 Novel Mutation p.Cys283Asn causing Non‑Syndromic Autosomal Recessive Intellectual Disability using Computational Methods

Clinical Proteomics and Bioinformatics ◽

10.15761/cpb.1000116 ◽

2016 ◽

Vol 1 (3) ◽

Author(s):

Sobiah Rauf ◽

Asif Mir

Keyword(s):

Intellectual Disability ◽

Computational Methods ◽

Autosomal Recessive ◽

Novel Mutation

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A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

European Journal of Dermatology ◽

10.1684/ejd.2012.1731 ◽

2012 ◽

Vol 22 (4) ◽

pp. 464-466 ◽

Cited By ~ 1

Author(s):

Aysha Azhar ◽

Muhammad Tariq ◽

Shahid Mahmood Baig ◽

Niklas Dahl ◽

Joakim Klar

Keyword(s):

Lysophosphatidic Acid ◽

Founder Effect ◽

Autosomal Recessive ◽

Novel Mutation ◽

Acid Receptor ◽

Lysophosphatidic Acid Receptor

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Novel SLC12A3 mutation in Gitelman syndrome

BMJ Case Reports ◽

10.1136/bcr-2020-238097 ◽

2021 ◽

Vol 14 (1) ◽

pp. e238097

Author(s):

Rita Veríssimo ◽

Luís Leite de Sousa ◽

Tiago J Carvalho ◽

Pedro Fidalgo

Keyword(s):

Metabolic Alkalosis ◽

Autosomal Recessive ◽

Novel Mutation ◽

Gene Mutations ◽

Urinary Calcium ◽

Gitelman Syndrome ◽

Renal Ultrasound ◽

Calcium Excretion ◽

Slc12a3 Gene ◽

Specific Symptoms

Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1–10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old man referred to a nephrology appointment due to persistent hypokalaemia and hypomagnesaemia. Complementary evaluation revealed hypokalaemia, hypomagnesaemia, metabolic alkalosis, hyperreninaemia, increased chloride and sodium urinary excretion, and reduced urinary calcium excretion. Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of GS was established and confirmed with genetic testing which revealed a novel mutation in SLC12A3 (c.1072del, p.(Ala358Profs*12)). This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.

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