Defect in Factor VIII (Hem A) or Factor IX (Hem B) X-linked
45X; Mosaic
22q11 deletion
Trisomy 21;maternal NDJ
G to A mutation in mtDNA; mitochondrial inheritance
AR; deletion of a-globin due to homologous pairing and unequal crossing over
AR; null mutation in B-globin
trace (10%) β-globin synthesis
no β-globin synthesis
transcription of β-globin is under the control of the δ-globin promoter, not the normal β promoter – so the hybrid gene is expressed at the same low level as δ
AR; Missense mutation [A!T; Glu!Val] on β-globin gene
Deletion of δ & β genes
X-Link Recessive; Deletion of 1 or more exons from dystrophin gene due to deletions, frameshift, nonsense mutations! near or complete absence of dystrophin
X-Link Recessive; In-frame deletions ! residual function of dystrophin gene
AR; Phenylalanine hydroxylase deficiency - unable to breakdown phenylalanine
AR; Deficiency of homogentistic acid oxidase
AR; Tyrosinase deficiency
AR; Deficiency of cystathionine β-synthetase (CBS
AR; Deficiency of branched chain ketoacid decarboxylase
AD; G!A at R200Q (loss of restriction site); C!T at R198X of the TF LMX1B gene
AD; FGFR3 mutation: dimerization of TK domain
AD; Missense mutation in FGFR3 [G380R]: dimerization of TK domain
AR; Null mutation in FGFR3 [T546K]
AD; Missense mutation in FGFR3
AD; FGFR2 (expressed predominantly in skull)
AD; R206H mutation in ACVR1 gene
AD; Missense mutation of MSX2
AD; Null mutation of MSX2
AD; Null mutation of Type II Collagen [COL2A1 gene]
AD; Null mutation of COLA1 or COL1A2 of Type I collagen
AD; Missense mutation of COL1A1 or COL1A2 of Type I collagen!Gly substitution
AD; Missense mutation in Type I collagen!gly substitution
AR; Deficient for enzymes essential for posttranslational modification of collagen (no mutations in Collagen Type I)
AD; Haploinsufficiency of porphobilinogen deaminase
AD; Deficiency of protoporphyrinogen oxidase
AD; Enhancer (intronic) mutation in gene upstream of SHH
AD; Single base change within enhancer (SBE) controlling SHH
AD; Mutation in distal elements of SOX9
AD; Single nucleotide change (C!T) upstream of lactase gene
AD; Recombination after misalignment in WBSCR on Chr7!deletion of ELN at 7q11.23
AD; Recombination after misalignment!3700kb deletion 17p11.2
AD; Recombination due to misalignment!duplication (GOF) of PMP22 on Chr 17p11.2
AD; Recombination due to misalignment!deletion (LOF) of PMP22 on Chr 17p11.2
AR; Deficiency of steroid 21-hydroxylase on CYP21A
AR; Intronic (GAA) expansion interferes with transcriptional elongation!deficiency of Frataxin
X-Link Dominant; CGG expansion in 5’UTR of Chr X: fragile site [FRAXA] at Xq27.3 ! lack of FMRP
X-Link Dominant; CGG expansion in 5’UTR
AD; CTG expansion in 3’UTR of the DMPK gene on Chr 19q13
AD; N-terminal CAG expansion in exon 1 of of Htt gene on Chr 4p16.3
AD; Exonic CAG expansion of SCA gene [ataxin-1]
X-Linked; Mutation in androgen receptor (AR)
X-autosome balanced translocation; “non-random” X inactivation
X-linked; Nonsense mutation of IL2RG gene on Chr X
X-Linked; Mutation in SWI2/SNF protein
X-Linked Dominant; LOF mutation in EFNB1
X-Linked Dominant; LOF mutation in MECP2 (methyl-binding domain protein)
De novo deletion during gametogenesis; Deletion of PWS-AS region of maternal Chr 15 + paternally imprinted UBE3A
De novo deletion (AS) + autosomal recessive (OCA2); Deletion of PWS-AS region of paternal Chr 15 + paternally mutated P gene
De novo deletion during gametogenesis; Deletion of PWS-AS region of paternal Chr 15 + maternally imprinted SNRPN
Autosomal recessive OR non-disjunction in meiosis II; NDJ in MII – trisomy rescue causing loss of extra chromosome
AD; Mutation in exon 1-13 of GNAS
AD; Mutation in maternal exon 1-13 of GNAS
AD; Mutation in paternal exon 1-13 of GNAS
AD; Imprinting defect in which exon 1A of GNAS
Sporadic; Somatic GOF mutation in GNAS
Most sporadic, slight evidence for dominant inheritance; mutation in MLL2
Recessive; Frameshift
Recessive; Deficiencity of β-glucosylceramidase
AD; SOD1 mutation
Dominant; Mutation in BOTH ROM1 & RDS
Multifactorial; Y402H mutation in CFH
Multifactorial; HLA-DQ2/DQ8; MYO9B gene in CELIAC4 region of Chr19
Multifactorial; LOF mutation in RET (receptor tyrosine kinase) – dominant effect; penetrance 50-70% − Modifier genes: GDNF & NRTN;EDNRB (EDN3) – recessive effect; SOX10 – d
Polygenic; HLADQ2/DQ8
Multifactorial; Type II – Glucokinase deficiency; Type I – HNF1A; Type III – HNF4A
Multifactorial; PPAR-gamma (Peroxisome proliferator-activated receptor), TCF7L2, SLC30A8
Ryanodine receptor mutation
hmd
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