Skip to main content
. 2017 Jun 1;38(7):764–777. doi: 10.1002/humu.23233

Table 2.

Genetic and clinical finding in Alström syndrome patients

Patient Location Nucleotide changea Protein change Gender Clinical findings
ALSUK1

  • Exon 8

  • Exon 8

  • c.4025_4026delinsA

  • c.6325G>T

  • p.(Gly1342Glufs*18)

  • p.(Glu2109*)

F Severely impaired vision, hearing difficulty requiring hearing aid, heart defect (infancy), obesity (infancy), raised creatinine (95 μmol/L), bladder dysfunction, chest infection, kyphoscoliosis.
ALSUK2

  • Exon 8

  • Exon 8

  • c.4053_4054del

  • c.4321C>T

  • p.(His1351Glnfs*5)

  • p.(Gln1441*)

M Impaired vision (infancy), obesity (infancy), global developmental delay.
ALSUK3.1

  • Exon 8

  • Exon 8

  • c.4225G>A

  • c.4225G>A

  • c.5081del

  • c.5081del

  • p.(Val1409Ile)

  • p.(Val1409Ile)

  • p.(Pro1692Leufs*39)

  • p.(Pro1692Leufs*39)

M Impaired vision (infancy), normal hearing, obesity (infancy).
ALSUK3.2

  • Exon 8

  • Exon 8

  • c.4225G>A

  • c.4225G>A

  • c.5081del

  • c.5081del

  • p.(Val1409Ile)

  • p.(Val4091Ile)

  • p.(Pro1692Leufs*39)

  • p.(Pro1692Leufs*39)

M Impaired vision (infancy), hearing difficulty requiring hearing aid, Fallots tetralogy, obesity.
ALSUK4

  • Exon 10

  • Exon 8

  • c.9258dup

  • c.5145T>G

  • p.(Asp3087*)

  • p.(Tyr1715*)

 M Cardiomyopathy.
ALSUK5

  • Exon 18

  • Exon 18

  • c.11738dup

  • c.11738dup

  • p.(Ser3914Lysfs*6)

  • p.(Ser3914Lysfs*6)

F Impaired vision (severe), heart abnormality (infancy), obesity (infancy).
ALSUK6 Exon 19 c.11881dup p.(Ser3961Phefs*12) M Photophobia and nystagmus (8 yr) but not otherwise vision impaired, cardiomyopathy, hyperlipidemia, chronic renal failure, bladder dysfunction.
ALSUK7 Exon 19 c.11881dup p.(Ser3961Phefs*12) M Photophobia and nystagmus (8 yr) but not otherwise vision impaired, hearing difficulties requiring cochlear implants, cardiomyopathy (50 yr), left bundle branch block, hyperlipidemia (55 yr), chronic renal failure (55 yr), bladder dysfunction
ALSUK8

  • Exon 5

  • Exon 8

  • c.1011_1012del

  • c.6590del

  • p.(Cys337*)

  • p.(Lys2197Serfs*10)

 M Impaired vision (severe), hearing difficulty requiring hearing aid, heart defect (infancy), DM (18 yr), NALFD, raised creatinine (81μmol/L).
ALSUK9

  • Exon 5

  • Exon 16

  • c.800G>A

  • c.11107C>T

  • p.(Trp267*)

  • p.(Arg3703*)

 F Impaired vision (infancy), normal hearing, cardiomyopathy (infancy), heart transplant then hemiparesis.
ALSUK10

  • Exon 8

  • Exon 16

  • c.2224dup

  • c.10975C>T

  • p.(Thr742Asnfs*2)

  • p.(Arg3703*)

 F Registered blind (1 yr), hearing difficulty requiring hearing aid, obesity (infancy), hyperlipidemia (18 yr), DM (18 yr).
ALSUK11

  • Exon 8

  • Exon 8

  • c.4147_4150del

  • c.4147_4150del

  • p.(Ser1383Asnfs*19)

  • p.(Ser1383Asnfs*19)

F Impaired vision (infancy), obesity (infancy), hyperlipidemia, DM (8 yr), raised liver enzymes, microcephaly.
ALSUK12

  • Exon 8

  • Exon 8

  • Intron 9

  • c.3392C>G

  • c.3392C>G

  • c.(7677+1_7678‐1)_(10387+1_10388‐1)del

  • p.(Ala1131Gly)

  • p.(Ala1131Gly)

  • p.(Gly2560Serfs*46)

F Impaired vision (severe), hearing difficulty requiring hearing aid, heart abnormality (infancy), obesity (infancy), hyperlipidemia, NAFLD, abnormal kidney function, kyphoscoliosis, chronic chest infections.
ALSUK13

  • Exon 8

  • Exon 8

  • c.6532C>T

  • c.11107C>T

  • p.(Gln2178*)

  • p.(Arg3703*)

 M Impaired vision (severe), hearing difficulty requiring hearing aid, heart defect (infancy), obesity (infancy), DM (18 yr), NALFD, raised creatinine (81 μmol/L).
ALSUK14

  • Exon 8

  • Exon 8

  • c.6829C>T

  • c.9541C>T

  • p.(Arg2277*)

  • p.(Arg3181*)

 M Impaired vision (severe), obesity, NAFLD
ALSUK15

  • Exon 8

  • Exon 8

  • c.6829C>T

  • c.9541C>T

  • p.(Arg2277*)

  • p.(Arg3181*)

 F Impaired vision (severe), hearing difficulty (infancy) requiring hearing aid, obesity (infancy), NAFLD, bladder dysfunction, gastro‐esophageal reflux, kyphoscoliosis.
ALSUK16

  • Exon 8

  • Exon 8

  • c.6901del

  • c.11449C>T

  • p.(Val2301Trpfs*43)

  • p.(Gln3817*)

 M Impaired vision (severe), hearing difficulty (infancy) requiring hearing aid, obesity (infancy), hyperlipidemia, NAFLD, abnormal kidney function, kyphoscoliosis (20 yr), hypogonadism.
SLO68‐13

  • Exon 8

  • Exon 16

  • c.4156dupA

  • c.11207C>A

  • p.(Thr1386Asnfs*15)

  • p.(Ser3736*)

 F Impaired vision, obesity, impaired glucose tolerance (13 yr), bilateral macular hypoplasia, bilateral cataract, microcrania, psychomotor delay.
SLO301‐11

  • Exon 10

  • Exon 10

  • c.8456_8817del

  • c.8456_8817del

  • p.(Thr2819Argfs*29)

  • p.(Thr2819Argfs*29)

F Obesity, dilated cardiomyopathy, OA, retinal dystrophy, sensorineural hearing loss.

F, female; M, male; DM, diabetes mellitus; OA, optic atrophy; NAFLD, nonalcoholic fatty liver disease; yr, year.

Notes: Novel variants are in bold.

a

Nucleotide numbering: +1 is A of ATG start codon (NCBI Reference Sequence NM_015120.4).