Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Mégarbané, André; Waked, N.; Chouery, Éliane; Moglabey, Yolla Bou; Saliba, Nagib; Mornet, Étienne; Serre, Jean‐Louis; Slim, Rima

doi:10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w

Cited by 15 publications

(8 citation statements)

References 24 publications

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“…3 DNA samples were available from the two affected brothers, one healthy brother, two healthy sisters and the mother (Figure 1a). RNA from whole blood was isolated using the PAXgene system (PreAnalytiX, Heidelberg, Germany).…”

Section: Patientsmentioning

confidence: 99%

“…They exhibited microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, coarse facial features (large nose, hypertelorism), retinitis pigmentosa, cataracts, sensorineural hearing loss and kyphoscoliosis in addition to mental retardation. 3 As this combination of symptoms did not fit any known clinical entity, it was classified as a new syndrome (online Mendelian inheritance in man (OMIM) 605685) with either autosomal recessive or X-linked inheritance. Although parental consanguinity was not reported to be present in the family, we conducted a genomewide homozygosity mapping approach that identified a homozygous region on chromosome 8 in the patients.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2009

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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), VPS13B. We then sequenced VPS13B 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.

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Section: Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2009

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“…Although X‐linked inheritance could be the mechanism explaining the presence of the two affected brothers in this family, autosomal recessive inheritance or even germline mosaicism for an autosomal gene cannot be excluded. Moreover, the presence additional microcephaly in these brothers, which was not mentioned in the family of Akesson may suggests further genetic heterogeneity, In this regard, we note that two brothers were reported with ID, microcephaly, CVG, retinitis pigmentosa, cataracts, and sensorineural deafness [Mégarbané et al, ]. The two brothers were later found to carry homozygous mutations in the Cohen gene VPS13B [Mégarbané et al, ].…”

Section: Discussionmentioning

confidence: 98%

Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

Tucci

Pezzani

Scuvera

et al. 2016

American J of Med Genetics Pt A

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Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome. Here, we report a patient with CVG-ID that was diagnosed using the novel approach of magnetic resonance imaging and we conduct a systematic review of all patients reported in the last 60 years, discussing the core clinical features of this syndrome. © 2016 Wiley Periodicals, Inc.

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“…The clinical manifestations included microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, coarse facial features (large nose, hypertelorism), retinitis pigmentosa, cataracts, sensorineural hearing loss and kyphoscoliosis in addition to mental retardation (Megarbane et al, 2001). Once a study has analysed the evolution of CS facial features in the early period of life to find clues for an earlier diagnosis, and then select accurate genetic counselling (El Chehadeh‐Djebbar et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome

Yang

Hou

et al. 2018

Intl J of Devlp Neuroscience

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Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations. At the same time, we review the related literature, and further expound the molecular mechanism of the disease, a variety of clinical manifestations, treatment and prognosis.

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Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Cited by 15 publications

References 24 publications

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

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

Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome

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