Oligomerization of ferroportin and the mechanism of autosomal dominance in ferroportin disease

Clinical and biochemical studies on a family in which 3 members have familial dysalbuminaemic hyperthyroxinaemia (FDH) are presented. They were clinically euthyroid with elevated serum thyroxine (T4) and free T4 indices but normal free T4 by equilibrium dialysis and normal serum triiodothyronine (total and free). All thyroid function tests on the remaining family members were normal. The inheritance is consistent with autosomal dominance. Also presented are data on 4 unrelated patients with FDH and two patients with T4 autoantibodies. The methods for detecting FDH, T4 antibodies and other causes of euthyroid hyperthyroxinaemia are now freely available. Since these anomalies may be more common than previously supposed, clinical awareness of the conditions is necessary to protect patients from the consequences of incorrect diagnosis of thyrotoxicosis.

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Concurrence of Morgagni's Syndrome, Schizophrenia and Adenomatous Goiter in Monozygotic Twins

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300027153 ◽

1953 ◽

Vol 2 (3) ◽

pp. 431-446 ◽

Cited By ~ 4

Author(s):

Bertha M. Aschner ◽

Franz J. Kallmann ◽

Leo Roizin

Keyword(s):

Monozygotic Twins ◽

Monozygotic Twin ◽

Common Denominator ◽

Genetic Theory ◽

Adenomatous Goiter ◽

Autosomal Dominance

SummaryClinical and histopathological data are presented on monozygotic twin sisters concordant as to schizophrenia, Morgagni's syndrome, and adenomatous goiter. The association of the three traits may have been coincidental, but apparently had a common denominator. The genetic theory of Morgagni's syndrome (pointing to autosomal dominance with irregular penetrance and especially low manifestation in the male) is discussed.

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Autosomal Dominance in a Late-Onset Motor Neuron Disease in the Mouse

Journal of Neurogenetics ◽

10.3109/01677068609106858 ◽

1986 ◽

Vol 3 (6) ◽

pp. 345-355 ◽

Cited By ~ 72

Author(s):

Anne Messer ◽

Lorraine Flaherty

Keyword(s):

Motor Neuron ◽

Motor Neuron Disease ◽

Late Onset ◽

Autosomal Dominance

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Primary Hyperparathyroidism Superimposed on a Pre-existing Familial Hypocalciuric Hypercalcemia Diagnosis

European Journal of Medical and Health Sciences ◽

10.24018/ejmed.2021.3.5.1023 ◽

2021 ◽

Vol 3 (5) ◽

pp. 8-11

Author(s):

Alamin Alkundi ◽

Rabiu Momoh

Keyword(s):

Primary Hyperparathyroidism ◽

Genetic Study ◽

Clinical Condition ◽

Elevated Serum ◽

Rare Condition ◽

Urinary Calcium ◽

Familial Hypocalciuric Hypercalcemia ◽

Inheritance Pattern ◽

Histologic Diagnosis ◽

Autosomal Dominance

Familial hypocalciuric hypercalcemia is a rare clinical condition of persistently elevated serum calcium and reduced urinary calcium levels with an autosomal dominance inheritance pattern to the three out of four large types of this condition known. This rare condition goes largely undiagnosed as patients are largely asymptomatic and where symptoms are present, other causes of hypercalcemia are considered first. Hyperparathyroidism, super-imposing on FHH, is an even rarer occurrence. We present the case of an adult male with an initial provisional assessment of FHH, which was later confirmed with a genetic study. He went on to develop hyperparathyroidism (with evident enlarged parathyroid glands on Sestamibi parathyroid scan done, and an eventual histologic diagnosis of parathyroid adenoma after surgery). It remains to be established if this is an incidental occurrence or if there is a causal relationship between FHH and an onward development of parathyroid hypertrophy or adenoma(ta).

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Variant von Willebrand’s Disease

Thrombosis and Haemostasis ◽

10.1055/s-0038-1649998 ◽

1980 ◽

Vol 43 (01) ◽

pp. 002-005 ◽

Cited By ~ 6

Author(s):

David Green ◽

K J Philip

Keyword(s):

Factor Viii ◽

Bleeding Time ◽

Excessive Bleeding ◽

Von Willebrand's Disease ◽

Von Willebrand’S Disease ◽

Crossed Immunoelectrophoresis ◽

The Family ◽

History Of ◽

Autosomal Dominance ◽

Ristocetin Cofactor

Summary30 members of an Illinois kindred were studied with a battery of haemostatic tests including the template bleeding time, platelet retention by glass beads (PRGB), measurement of activities related to factor VIII, and crossed-immunoelectrophoresis (CIEP). 9 family members had a history of excessive bleeding, and all 9 had prolonged bleeding times and increased migration of their factor VIII-related antigen (VIIIR:Ag) on CIEP. Of the other tests performed, the VIII: Ristocetin Cofactor and the PRGB showed the best correlation with the bleeding time. 3 subjects who were not bleeders, but who came from a branch of the family where there were several affected members, also had an abnormal VIIIR: Ag. The pattern of inheritance of the altered VIIIR: Ag in this family was one of autosomal dominance with full penetrance. The CIEP is a valuable screening test for the detection of variant von Willebrand’s disease and the recognition of silent heterozygotes.

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Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

Current Opinion in Immunology ◽

10.1016/j.coi.2015.01.005 ◽

2015 ◽

Vol 32 ◽

pp. 90-105 ◽

Cited By ~ 44

Author(s):

Bertrand Boisson ◽

Pierre Quartier ◽

Jean-Laurent Casanova

Keyword(s):

Genetic Gain ◽

Loss Of Function ◽

Gain Of Function ◽

The Third ◽

Autosomal Dominance

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Rendu-Osler-Weber Syndrome: A Case Report

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2014.109 ◽

2014 ◽

Vol 2 (4) ◽

pp. 613-617

Author(s):

Vladimir Vukomanović ◽

Milovan Matović ◽

Vesna Ignjatović ◽

Branislav Belić

Keyword(s):

Case Report ◽

Arteriovenous Malformations ◽

Genetic Disorder ◽

Deficiency Anemia ◽

Recurrent Epistaxis ◽

Weber Syndrome ◽

Mucous Membranes ◽

Autosomal Dominance ◽

Upper Gastrointestinal ◽

Variable Penetrance

Hereditary hemorrhagic telangectasia (HHT) or Rendu-Osler-Weber syndrome, is a rare genetic disorder with autosomal dominance and variable penetrance. The typical findings of the disease are telangiectasias in skin and mucous membranes, and arteriovenous malformations presenting in the organs like lung, intestine, brain and liver. It is characterized by the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and visceral hemorrhages, with familial occurrence. This article describes a case of HHT of an adult patient, associated with multiple angiodysplasic injuries in the nasal mucosa, upper gastrointestinal tract, lungs and who presents continuous blood loss, resulting iron deficiency anemia. Based on clinical and diagnostic findings, we diagnosed this case as HHT, which has rarely been reported in our literature.

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Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

Children ◽

10.3390/children7090144 ◽

2020 ◽

Vol 7 (9) ◽

pp. 144

Author(s):

Ji Yoon Han ◽

Hyun Joo Lee ◽

Young-Mock Lee ◽

Joonhong Park

Keyword(s):

Febrile Seizure ◽

Febrile Illness ◽

Causative Mutation ◽

Population Database ◽

Gene Filtering ◽

The Family ◽

Disease Penetrance ◽

Autosomal Dominance ◽

Codon Change ◽

Genetic Epilepsies

Febrile seizure (FS) is related to a febrile illness (temperature > 38 °C) not caused by an infection of central nervous system, without neurologic deficits in children aged 6–60 months. The family study implied a polygenic model in the families of proband(s) with single FS, however in families with repeated FS, inheritance was matched to autosomal dominance with reduced disease penetrance. A 20 month-old girl showed recurrent FS and afebrile seizures without developmental delay or intellectual disability. The seizures disappeared after 60 months without anti-seizure medication. The 35 year-old proband’s mother also experienced five episodes of simple FS and two episodes of unprovoked seizures before 5 years old. Targeted exome sequencing was conducted along with epilepsy/seizure-associated gene-filtering to identify the candidate causative mutation. As a result, a heterozygous c.2039A>G of the ADGRV1 gene leading to a codon change of aspartic acid to glycine at the position 680 (rs547076322) was identified. This protein’s glycine residue is highly conserved, and its allele frequency is 0.00002827 in the gnomAD population database. ADGRV1 mutation may have an influential role in the occurrence of genetic epilepsies, especially those with febrile and afebrile seizures. Further investigation of ADGRV1 mutations is needed to prove that it is a significant susceptible gene for febrile and/or afebrile seizures in early childhood.

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Dental considerations and management in Noonan Syndrome: A case report with review of literature

Contemporary Pediatric Dentistry ◽

10.51463/cpd.2021.57 ◽

2021 ◽

Vol 2 (2) ◽

pp. 55-62

Author(s):

Nipun Jain ◽

Priyanka Venugopal ◽

Arun Mamachan Xavier ◽

Parvathy Kumaran ◽

Balagopal R Varma ◽

...

Keyword(s):

Quality Of Life ◽

Case Report ◽

Noonan Syndrome ◽

Cystic Lesion ◽

Genetic Disorder ◽

Multidisciplinary Treatment ◽

Review Of Literature ◽

Facial Deformity ◽

Autosomal Dominance

Noonan syndrome is a genetic disorder of autosomal dominance with an estimated prevalence of 1:1000 – 1:2500 live birth. The typical features include short stature, cardiovascular abnormalities and characteristics facial deformity. Dental features reported so far include malocclusion, dental caries, giant cell and cystic lesion. Multidisciplinary treatment plays a key role in the overall quality of life of the patient. This case report describes a 6-year-old boy with Noonan syndrome.

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Familial os odontoideum

Journal of Neurosurgery ◽

10.3171/jns.1989.70.4.0636 ◽

1989 ◽

Vol 70 (4) ◽

pp. 636-639 ◽

Cited By ~ 59

Author(s):

Michael K. Morgan ◽

Burton M. Onofrio ◽

Claire E. Bender

Keyword(s):

Mr Imaging ◽

Index Case ◽

Cord Compression ◽

Os Odontoideum ◽

Type Ii ◽

Content Type ◽

X Ray ◽

Autosomal Dominance ◽

Flexion And Extension ◽

Fine Print

✓ A familial asymptomatic os odontoideum with a Klippel-Feil type II fusion of C-2 and C-3 is reported. The pattern of inheritance within this family is consistent with that of autosomal dominance. The index case, a 16-year-old boy, was studied with plain cervical spine x-ray films, lateral cervical tomography in flexion and extension, fluoroscopic evaluation of the subluxation, and magnetic resonance (MR) imaging of the spine in flexion and extension. In spite of the subluxation noted on flexion and extension, there was no evidence of cord compression on MR imaging. The etiology and management of this condition are discussed.

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