symphalangism การใช้

• Heterozygous missense mutations in the noggin gene can cause deformities such as joint fusions and syndromes such as multiple synostosis syndrome ( SYNS1 ) and proximal symphalangism ( SIM1 ).
• Recently, several heterozygous missense human NOG mutations in unrelated families with proximal symphalangism ( SYM1 ) and multiple synostoses syndrome ( SYNS1 ) have been identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region on chromosome 17 ( 17q22 ) as NOG . These mutations indicate functional haploinsufficiency where the homozygous forms are embryonically lethal.