Biology Reference
In-Depth Information
FIGURE 6.1. Diagram of a normal male karyotype (46,XY) showing the location of
the centromeres, the chromosome arms (short or p-arm and long or q-arm) and the
major Giemsa-bands. The autosomes are numbered from 1 to 22. The designations
for DFNA loci are shown as A1 to A36, while DFNB loci are shown as B1 to B28.
The symbols for syndromic and nonsyndromic hearing loss loci that have been iden-
tified are underlined. When the same gene has been identified with mutant alleles
associated with more than one syndrome and/or more than one nonsyndromic locus,
the loci are separated by a
slash
(/). Loci separated by a comma map to a similar
chromosomal interval. Notice that loci for syndromic and nonsyndromic deafness
are found on all the autosomes and X-chromosome. The gene symbols for the
syndromic deafness loci are listed in Table 6.5, along with a brief description of the
phenotype. ACS1, Apert syndrome; ACS5, Pfeiffer syndrome; ADFN, Albinism-
deafness syndrome; AGU, Aspartylglucosaminuria; ALD, Adrenoleukodystrophy;
ALSS, Alström syndrome; BJS, Bjornstad syndrome; ATS, X-linked Alport syn-
drome; BOR, Branchio-oto-renal syndrome; BOR2, Branchio-otic syndrome with
commissural lip pits; BOS, Branchio-otic syndrome; BTD, Biotinidase deficiency;
CCD, Cleidocranial dysplasia; CDHS, Craniofacial-deafness-hand syndrome; CFD1,
Crouzon syndrome; CLS, Coffin-Lowry syndrome; CMDJ Craniometaphyseal
dysplasia, Jackson type; CMT1A, Charcot-Marie-Tooth disease, type 1A; CMT1B,
Charcot-Marie-Tooth disease, type 1B; CMT2, Charcot-Marie-Tooth disease,
type 2; CMT4A, Charcot-Marie-Tooth disease, type 4A; CMT4B, Charcot-Marie-
Tooth disease, type 4B; CMTX, Charcot-Marie-Tooth disease, X-linked dominant;
CMTX2, Charcot-Marie-Tooth disease, X-linked recessive; CSA, Cockayne syn-
drome, type I/A; CSB, Cockayne syndrome, type II/B; dRTA, Renal tubular
acidosis with sensorineural deafness; DGS, DiGeorge syndrome; DGS2, DiGeorge
syndrome; EEC1, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome,
type I; EEC2, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, type
II; FGS, FG syndrome; FRDA, Friedreich ataxia type I; GALC, Krabbe disease;
GJB3, gap junction protein
b-3; GLA, Fabry disease; GUST, Gustavson syndrome;
HMSN IV, Refsum disease; HMSNL, Hereditary motor and sensory neuropathy,
Lom type; HYP1, Hypophosphatemia Type I; HYP2, Hypophosphatemia Type II;
IDS, Hunter syndrome; IDUA, Hurler syndrome; IRD, Refsum disease, infantile
form; JLNS1, Jervell and Lange-Nielsen syndrome; JLNS2, Jervell and Lange-
Nielsen syndrome; KHM, Vohwinkel syndrome, classic form; KAL1, Kallmann
syndrome; LOR, Vohwinkel syndrome, variant form; MANB1, Beta mannosidosis;
Marshall, Marshall syndrome MFS1, Marfan syndrome; MFS2, Marfan syndrome;
MTS, Mohr-Tranebjaerg syndrome, Jensen syndrome; ND, Norrie disease; NEU,
Sialidosis; NF2, Neurofibromatosis type 2; NPC, Niemann-Pick type C disease; NS1,
Noonan syndrome; OASD, Ocular albinism with sensorineural deafness; OFD1,
Orofaciodigital syndrome, type 1; OI, Osteogeneis imperfecta; OPD1, Otopala-
todigital syndrome, type I; OPTA2, Osteopetrosis type II; OPTB1, Osteopetrosis;
OSMED, Chondrodystrophy with sensorineural deafness; OTS, otosclerosis; PBT,
Piebaldism; PDB1, Paget disease; PDB2, Paget disease; PDS, Pendred syndrome;
SCS, Saethre-Chotzen syndrome; SEDC, Spondyloepiphyseal dysplasia congenita;
SMS, Smith-Magenis syndrome; STL1, Stickler syndrome; STL2, Stickler syndrome;
STL3, Stickler syndrome; SYM1, Symphalangism; SYNS1, Multiple synostoses
syndrome; TBS, Townes-Brocks syndrome; TCOF1, Treacher Collins' syndrome;
TIETZ, Tietze's syndrome; TSD, Tay-Sachs disease; USH1A, Usher syndrome type
1A; USH1B, Usher syndrome type 1B; USH1C, Usher syndrome type 1C; USH1D,
