Tags

Type your tag names separated by a space and hit enter

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Am J Med Genet A 2007; 143A(16):1885-9AJ

Abstract

The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array-CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32. The deleted region includes, among others, the ROR2 and PTCH genes. Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of ROR2 may contribute to pulmonary valve stenosis. Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features.

Authors+Show Affiliations

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. bnowakowska@imid.med.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17632781

Citation

Nowakowska, Beata, et al. "A Girl With Deletion 9q22.1-q22.32 Including the PTCH and ROR2 Genes Identified By Genome-wide Array-CGH." American Journal of Medical Genetics. Part A, vol. 143A, no. 16, 2007, pp. 1885-9.
Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, et al. A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A. 2007;143A(16):1885-9.
Nowakowska, B., Kutkowska-Kaźmierczak, A., Stankiewicz, P., Bocian, E., Obersztyn, E., Ou, Z., ... Cai, W. W. (2007). A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. American Journal of Medical Genetics. Part A, 143A(16), pp. 1885-9.
Nowakowska B, et al. A Girl With Deletion 9q22.1-q22.32 Including the PTCH and ROR2 Genes Identified By Genome-wide Array-CGH. Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. PubMed PMID: 17632781.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. AU - Nowakowska,Beata, AU - Kutkowska-Kaźmierczak,Anna, AU - Stankiewicz,Paweł, AU - Bocian,Ewa, AU - Obersztyn,Ewa, AU - Ou,Zhishuo, AU - Cheung,Sau Wai, AU - Cai,Wei-Wen, PY - 2007/7/17/pubmed PY - 2007/11/10/medline PY - 2007/7/17/entrez SP - 1885 EP - 9 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 143A IS - 16 N2 - The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array-CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32. The deleted region includes, among others, the ROR2 and PTCH genes. Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of ROR2 may contribute to pulmonary valve stenosis. Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/17632781/A_girl_with_deletion_9q22_1_q22_32_including_the_PTCH_and_ROR2_genes_identified_by_genome_wide_array_CGH_ L2 - https://doi.org/10.1002/ajmg.a.31845 DB - PRIME DP - Unbound Medicine ER -