Expanding the mutation and clinical spectrum of Roberts syndrome.

Autor: Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Tosson AM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Shousha WG; Chemistry Department, Biochemistry Unit, Faculty of Science, Helwan University, Cairo, Egypt., Abdel Azeem AA; Ophthalmic Genetics Department, Research Institute of Ophthalmology, Cairo, Egypt., Farag MK; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Oral and Dental Research Division, National Research Centre, Cairo, Egypt., Gaber KR; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Congenital anomalies [Congenit Anom (Kyoto)] 2016 Jul; Vol. 56 (4), pp. 154-62.
DOI: 10.1111/cga.12151
Abstrakt: Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome.
(© 2015 Japanese Teratology Society.)
Databáze: MEDLINE
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