Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34

• Published in: American journal of human genetics 2006-09, Vol.79 (3), p.580-585
• Main Authors: Radhakrishna, Uppala, Ratnamala, Uppala, Gaines, Mathew, Beiraghi, Soraya, Hutchings, David, Golla, Jeffrey, Husain, Syed A., Gambhir, Prakash S., Sheth, Jayesh J., Sheth, Frenny J., Chetan, Ghati K., Naveed, Mohammed, Solanki, Jitendra V., Patel, Uday C., Master, Dilipkumar C., Memon, Rafiq, Antonarakis, Gregory S., Antonarakis, Stylianos E., Nath, Swapan K.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Chromosomes, Human, Pair 13 - genetics; Classical genetics, quantitative genetics, hybrids; Cleft Lip - genetics; Cleft Palate - genetics; Congenital diseases; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Linkage; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genomics; Genotype & phenotype; Haplotypes; Human; Humans; India; Medical genetics; Medical sciences; Molecular and cellular biology; Mouth; Native North Americans; Non tumoral diseases; Otorhinolaryngology. Stomatology; Pedigree; Physical Chromosome Mapping
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/507487

Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the anomaly segregates as an autosomal dominant trait. The phenotype was variable, ranging from unilateral to bilateral CL-P. A genomewide linkage scan that used ∼10,000 SNPs was performed. Nonparametric linkage (NPL) analysis identified 11 genomic regions (NPL>3.5; P