Here I present: “Limb Mammary Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肢乳腺综合征。(LMS).
INTRODUCTION.
Limb-mammary syndrome (LMS) is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.
Limb-mammary syndrome (LMS) is an autosomal dominant disorder characterized by variable expressivity of severe hand and/or foot anomalies (deficiencies, duplications, and fusion/separation defects) and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal duct atresia, nail dysplasia hypohidrosis, hypodontia, and cleft palate with or without bifid uvula.
There is evidence that limb-mammary syndrome is caused by heterozygous mutation in the tumor protein p63 (TP63) gene on cytogenetic location 3q28 and genomic coordinates 3:189,596,746-189,897,276 . The screenshot of the TP63 gene 300,531 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TP63 in the 3q28 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:188,153,021 | LPP | Lipoma-preferred-partner gene |
| 3:188,200,001 | CELIAC11 | Celiac disease, susceptibility to, 11 |
| 3:188,200,001 | LNCR5 | Lung cancer susceptibility 5 |
| 3:188,688,781 | MIR28 | Micro RNA 28 |
| 3:189,596,746 | TP63 | Tumor protein p63 |
| 3:189,956,728 | P3H2 | Prolyl 3-hydroxylase 2 |
| 3:190,290,361 | CLDN16 | Claudin 16 (paracellin 1) |
| 3:190,305,707 | CLDN1 | Claudin 1 |
| 3:190,428,655 | TMEM207 | Transmembrane protein 207 |
| 3:190,514,085 | IL1RAP | Interleukin 1 receptor access protein |
