“Orofacial Cleft”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=Q37.5

 

Here I present: “Orofacial Cleft”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=Q37.5

INTRODUCTION.

Nonsyndromic cleft lip with or without cleft palate (orofacial cleft) is a complex disease with a wide phenotypic spectrum ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate.

Isolated cleft lip with or without cleft palate (orofacial cleft) is genetically heterogeneous. The orofacial cleft (OFC1)  locus has been mapped to cytogenetic location 6p24.3 and genomic coordinates 6:7,100,001-10,600,000. The screenshot the OFC1 gene 3,500,000 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides OFC1 in the 6p24.3 cytogenetic location are listed BENEATH.

 

 

 

 

Coordinate	Symbol	Genomic Name
6:5,249,934	FARS2	Phenylalanyl-tRNA synthetase 2, mitochondrial
6:5,997,999	NRN1	Neuritin 1
6:6,144,084	F13A1	Coagulation factor XIII, A polypeptide
6:6,588,720	LY86	Lymphocyte antigen 86
6:7,100,001	OFC1	Orofacial cleft-1
6:7,107,743	RREB1	RAS-responsive element binding protein-1
6:7,281,143	SSR1	Signal sequence receptor, alpha
6:7,326,659	CTAG3	Cancer/testis antigen 3
6:7,389,808	RIOK1	RIO kinase 1
6:7,541,671	DSP	Desmoplakin