Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

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The May-Hegglin Anomaly: Platelet Function, Ultrastructure and Chromosome Studies

Blood ◽

10.1182/blood.v32.6.950.950 ◽

1968 ◽

Vol 32 (6) ◽

pp. 950-961 ◽

Cited By ~ 28

Author(s):

JEANNE M. LUSHER ◽

JOHN SCHNEIDER ◽

I. MIZUKAMI ◽

RUTH K. EVANS

Keyword(s):

Platelet Function ◽

Autosomal Dominant ◽

Dominant Mode ◽

Bleeding Tendency ◽

Function Defect ◽

Father And Son ◽

Mode Of Inheritance

Abstract A father and son with the May-Hegglin anomaly were studied. Both were asymptomatic, although the father had a mild thrombocytopenia and a probable platelet thromboplastic function defect. Possible mechanisms for the bleeding tendency observed in approximately one-fourth of the persons with this anomaly are discussed. The autosomal dominant mode of inheritance is again demonstrated, and both father and son were found to have normal chromosomes.

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The Hairy Family of Burma: A Four Generation Pedigree of Congenital Hypertrichosis Lanuginosa

Journal of the Royal Society of Medicine ◽

10.1177/014107689608900713 ◽

1996 ◽

Vol 89 (7) ◽

pp. 403-408 ◽

Cited By ~ 8

Author(s):

J Bondeson ◽

A E W Miles

Keyword(s):

Nineteenth Century ◽

Autosomal Dominant ◽

Dominant Mode ◽

Good Evidence ◽

Show Business ◽

Mode Of Inheritance

A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. The hairy Burmese are the only example of a four-generation pedigree of congenital hypertrichosis lanuginosa, which is consistent with an autosomal dominant mode of inheritance. There is good evidence that, when the members of this family were hairy, their dentition was also deficient.

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Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

Sao Paulo Medical Journal ◽

10.1590/s1516-31802011000200010 ◽

2011 ◽

Vol 129 (2) ◽

pp. 110-112 ◽

Cited By ~ 7

Author(s):

Luiz Guilherme Darrigo Júnior ◽

Elvis Terci Valera ◽

André de Aboim Machado ◽

Antonio Carlos dos Santos ◽

Carlos Alberto Scrideli ◽

...

Keyword(s):

Moyamoya Disease ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Type I ◽

Moyamoya Syndrome ◽

Radiological Findings ◽

Convulsive Seizures ◽

Age Range

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

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Familial Phonological Disorders

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.5501.160 ◽

1990 ◽

Vol 55 (1) ◽

pp. 160-170 ◽

Cited By ~ 27

Author(s):

Barbara A. Lewis

Keyword(s):

Learning Disabilities ◽

Autosomal Dominant ◽

Threshold Model ◽

Family Members ◽

Speech Disorders ◽

Dominant Mode ◽

Incomplete Penetrance ◽

Phonological Disorders ◽

Language Problems ◽

Mode A

The pedigrees of 4 children with a severe phonological disorder demonstrating three generations of members with speech/language problems are presented. All 4 probands were female with two mothers, two fathers, and five out of six siblings affected. All pedigrees contained family members with dyslexia and learning disabilities as well as speech disorders. Family members varied in the type of speech problems that they demonstrated and the severity of their disorder, thus suggesting variable expressivity and incomplete penetrance. An autosomal dominant mode, a multifactorial-polygenic model, and a sex-specific threshold model for expression are discussed.

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Insight into the autosomal-dominant inheritance pattern of SOD1-associated ALS from native mass spectrometry

10.1101/2020.07.13.199976 ◽

2020 ◽

Author(s):

Jelena Cveticanin ◽

Tridib Mondal ◽

Elizabeth M. Meiering ◽

Michal Sharon ◽

Amnon Horovitz

Keyword(s):

Mass Spectrometry ◽

Autosomal Dominant ◽

Native Mass Spectrometry ◽

Autosomal Dominant Inheritance ◽

Coupling Constant ◽

Inheritance Pattern ◽

Wild Type ◽

Dominant Inheritance ◽

Mutant Sod1 ◽

Autosomal Dominant Inheritance Pattern

AbstractAbout 20% of all familial amyotrophic lateral sclerosis (ALS) cases are associated with mutations in superoxide dismutase (SOD1), a homodimeric protein. The disease has an autosomal-dominant inheritance pattern. It is, therefore, important to determine whether wild-type and mutant SOD1 subunits self-associate randomly or preferentially. A measure for the extent of bias in subunit association is the coupling constant determined in a double-mutant cycle type analysis. Here, cell lysates containing co-expressed wild-type and mutant SOD1 subunits were analyzed by native mass spectrometry to determine these coupling constants. Strikingly, we find a linear positive correlation between the coupling constant and the duration of the disease. Our results indicate that inter-subunit communication and a preference for heterodimerization greatly increase the disease severity.

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