A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

[cohen syndrome]

We have earlier described a syndrome characterized by microcephaly , cutis verticis gyrata , retinitis pigmentosa , cataracts , hearing loss and mental retardation (Mendelian inheritance in man (MIM ) no : 605685 ) in two brothers from a non-consanguineous Lebanese family . In view of the rarity of the disorder and the high rate of inbreeding in the Lebanese population , we assumed an autosomal recessive trait inherited from a common ancestor . A genomewide scan was performed . The single locus on the long arm of chromosome 8 that showed homozygosity by descent comprised the gene responsible for Cohen syndrome (CS ), VPS 13 B . We then sequenced VPS 13 B in the patients and found a homozygous splice site mutation . Several possible explanations for the overlap between CS and the clinical features observed in our patients are discussed . Our data highlight the potential of high -resolution homozygosity mapping in small populations with a high rate of inbreeding .

Diseases
Validation

Diseases presenting "high rate" symptom

alpha-thalassemia

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cystinuria

dystrophic epidermolysis bullosa

erythropoietic protoporphyria

esophageal carcinoma

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

krabbe disease

liposarcoma

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

thoracic outlet syndrome

trochlear dysplasia

x-linked adrenoleukodystrophy

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