Tags

Type your tag names separated by a space and hit enter

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Eur J Hum Genet. 2010 Oct; 18(10):1100-6.EJ

Abstract

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.

Authors+Show Affiliations

Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany. deborah.morris-rosendahl@uniklinik-freiburg.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20512159

Citation

Morris-Rosendahl, Deborah J., et al. "New RAB3GAP1 Mutations in Patients With Warburg Micro Syndrome From Different Ethnic Backgrounds and a Possible Founder Effect in the Danish." European Journal of Human Genetics : EJHG, vol. 18, no. 10, 2010, pp. 1100-6.
Morris-Rosendahl DJ, Segel R, Born AP, et al. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Eur J Hum Genet. 2010;18(10):1100-6.
Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Müller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M. A., Kraus, U., Degen, I., & Faes, F. (2010). New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. European Journal of Human Genetics : EJHG, 18(10), 1100-6. https://doi.org/10.1038/ejhg.2010.79
Morris-Rosendahl DJ, et al. New RAB3GAP1 Mutations in Patients With Warburg Micro Syndrome From Different Ethnic Backgrounds and a Possible Founder Effect in the Danish. Eur J Hum Genet. 2010;18(10):1100-6. PubMed PMID: 20512159.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. AU - Morris-Rosendahl,Deborah J, AU - Segel,Reeval, AU - Born,A Peter, AU - Conrad,Christoph, AU - Loeys,Bart, AU - Brooks,Susan Sklower, AU - Müller,Laura, AU - Zeschnigk,Christine, AU - Botti,Christina, AU - Rabinowitz,Ron, AU - Uyanik,Gökhan, AU - Crocq,Marc-Antoine, AU - Kraus,Uwe, AU - Degen,Ingrid, AU - Faes,Fran, Y1 - 2010/05/26/ PY - 2010/6/1/entrez PY - 2010/6/1/pubmed PY - 2011/2/8/medline SP - 1100 EP - 6 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 18 IS - 10 N2 - Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population. SN - 1476-5438 UR - https://www.unboundmedicine.com/medline/citation/20512159/New_RAB3GAP1_mutations_in_patients_with_Warburg_Micro_Syndrome_from_different_ethnic_backgrounds_and_a_possible_founder_effect_in_the_Danish_ L2 - https://doi.org/10.1038/ejhg.2010.79 DB - PRIME DP - Unbound Medicine ER -