Zlotogora J
Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
Am J Med Genet. 1994 Oct 15;53(1):29-32. doi: 10.1002/ajmg.1320530107.
Analysis of families with non-syndromal split hand/split foot (SHSF) confirms the existence of 2 distinct entities, most probably caused by at least 2 different autosomal dominant genes. In the families in which the SHSF malformation is non-syndromal and limited to the hands and feet (type I), the pattern of inheritance is of a regular autosomal dominant gene with a high penetrance (96%). In families in which at least one individual has other limb malformations and SHSF (type II), the transmission is often unusual. In most families, the gene is non-penetrant, sometimes for generations, before the birth of the first affected individual. Thereafter, among the descendants of affected individuals, the penetrance is reduced (66%), suggesting the possible existence of another gene which controls the appearance of the clinical manifestations. The possibility that SHSF associated with other limb malformations is a disorder caused by trinucleotide repeat instability is raised.
对非综合征性裂手/裂足（SHSF）家族的分析证实存在两种不同的情况，很可能是由至少两种不同的常染色体显性基因引起的。在SHSF畸形为非综合征性且仅限于手和足的家族（I型）中，遗传模式是具有高外显率（96%）的常规常染色体显性基因。在至少有一个个体存在其他肢体畸形和SHSF的家族（II型）中，遗传传递往往不寻常。在大多数家族中，该基因在第一个患病个体出生前几代有时不表现，之后，在患病个体的后代中，外显率降低（66%），这表明可能存在另一个控制临床表现出现的基因。与其他肢体畸形相关的SHSF是由三核苷酸重复序列不稳定引起的疾病这一可能性也被提出。
