Townes-Brocks-Syndrom

Abstract

BeimTownes-Brocks-Syndrom (TBS) handelt es sich um eine familiä r auftretende Fehlbildungskombination von Daumen-, Ohr-und Analanomalien in unterschiedlicher Ausprä gung. Erstmals beschrieben 1972 die Pä diater Townes und Brocks dieses Dysmorphiesyndrom bei einem Vater und 5 seiner 7 Kinder [24]. Im folgenden soll eine Familie mit 3 an TBS erkrankten Mitgliedern vorgestellt werden.

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

“…Townes-Brocks syndrome (TBS; MIM 107480) was first described by Townes and Brocks (1972) as an association of imperforate anus, supernumerary thumbs, malformed ears, preauricular tags, and sensorineural hearing loss. Since the first description, several additional families have been described and several isolated cases have been reported (Reid and Turner 1976;Kurnit et al 1978;Walpole and Hockey 1982;Barakat et al 1988;de Vries-van der Weerd et al 1988;O'Callaghan and Young 1990;Rossmiller and Pasic 1994;Wischermann and Holschneider 1997). However, the frequency of this condition has not yet been determined.…”

“…The clinical presentation of TBS is highly variable (de Pina-Neto 1984;O'Callaghan and Young 1995;Wischermann and Holschneider 1997) both within and between affected families. Characteristic features of TBS are anorectal abnormalities (imperforate anus), abnormalities of the hands (preaxial polydactyly, triphalangeal thumbs), abnormalities of the feet (syndactyly, club foot), deformities of the outer ear ("lop ears") and preauricular tags, and sensorineural hearing loss (Rossmiller and Pasic 1994).…”

“…Characteristic features of TBS are anorectal abnormalities (imperforate anus), abnormalities of the hands (preaxial polydactyly, triphalangeal thumbs), abnormalities of the feet (syndactyly, club foot), deformities of the outer ear ("lop ears") and preauricular tags, and sensorineural hearing loss (Rossmiller and Pasic 1994). Renal malformations have also been reported in several cases (see O' Callaghan and Young 1995;Wischermann and Holschneider 1997) and can lead to renal failure in patients with TBS (Rossmiller and Pasic 1994;Newman et al 1997). Cardiac malformations (O'Callaghan and Young 1995) and mental retardation (Cameron et al 1991;Ishikiriyama et al 1996) are rarely reported.…”

Silver-Russell syndrome and ring chromosome 7

“…The first primer set consisted of a forward primer designed on the cDNA sequence 5' of the site of insertion (DHCR 930-949 ) and a reverse primer designed on the 134 bp insertion sequence (DHCR-ins 113-95 ), which amplified a genomic DNA fragment of approximately 2 kb. The second set consisted of a forward primer designed on the 134 bp insertion sequence (DHCR-ins [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] ) and a reverse primer designed on the cDNA sequence 3' of the site of insertion (DHCR 996-978 ), which amplified a genomic DNA fragment of approximately 120 bp. Taken together, these results indicated that the 134 bp insertion resulted from a partial retention of the 3' end of an intron with an approximate size of 2 kb.…”

“…This amplification produced two overlapping fragments of 1073 and 650 bp, respectively (fig 3). The cDNA containing the 134 bp insertion was specifically amplified using the same 5' and 3' region primers in combination with the DHCRins 113-95 and DHCR-ins [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] primers designed on the insertion DNA sequence. This amplification produced two overlapping fragments of 1170 and 748 bp, respectively ( fig 3).…”