Table 1 Summary of clinical features of individuals with missense KMT2D variants.

From: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

#

Sex

Age at assessment

gDNA (hg19); Exon number; KMT2D cDNA; KMT2D protein

Inheritance

Physical anomalies and other phenotypes

EE

HL

Ocu

Lac

Ch

Pal

Den

Br

Thy

Ma

Ca

GI

Ren

Gen

Imm

GR

FD

MD

SD

ID

MRI-B

Other comments

F1;II:1

F

13 years

12:49428008G>C; ex 38; c.10582C>G; p.(Leu3528Val)

DN

Y

Y

Y

Y

Y

N

N

Y

Y

Y

N

N

N

N

N

Y

N

N

Y

N

NK

Moderate thoracic scoliosis; clinical suspicion of CHARGE syndrome

F2;II:1

M

2 years 8 months

12:49428008G>C; ex 38; c.10582C>G; p.(Leu3528Val)

DN

Y

Y

N

Y

Y

N

Y

Y

N

Y

N

Y

N

N

N

Y

Y

N

Y

N

Y

None

F3;II:1

M

28 days

12:49427965A>G; ex 38; c.10625T>C; p.(Leu3542Pro)

DN

Y

N

Y

N

Y

N

NA

Y

N

N

Y

N

N

N

NA

NA

Y

NA

NA

NA

N

Died at 28 days of age

F4;II:5

M

9 years

12:49427932C>A; ex 38; c.10658G>T; p. (Gly3553Val) (variant was mosaic in I:1)

Pat

N

Y

N

Y

Y

N

Y

Y

Y

Y

Y

Y

N

Y

Y

Y

N

N

Y

N

N

None

F4;II:9

F

4 months

Pat

N

Y

N

Y

Y

N

N

Y

Y

Y

Y

N

N

N

Y

Y

N

NA

NA

NA

N

Died at 4 months of age following pneumonia

F4;I:1

M

39 years

NK

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

None

F5;II:1

M

3.5 years

12:49427932C>A; ex 38; c.10658G>T;p. (Gly3553Val)

DN

Y

Y

N

N

Y

N

Y

Y

Y

Y

Y

Y

N

N

Y

Y

Y

Y

Y

N

Y

None

F6;II:1

M

6 years

12:49427743C>T; ex 38; c.10745G>A;p.(Arg3582Gln)

Mat

Y

Y

Y

Y

N

Y

N

N

Y

N

N

N

N

N

N

N

N

N

Y

N

N

Clinical suspicion of branchiootorenal syndrome

F6;I:2

F

35 years

NK

Y

Y

N

Y

N

Y

N

N

N

N

N

N

N

N

N

N

N

N

N

N

N

Clinical suspicion of branchiootorenal syndrome

F7;II:1

M

3 years 5 months

12:49427744G>A; ex 39; c.10744C>T; p.(Arg3582Trp)

DN

N

Y

N

Y

Y

N

N

Y

Y

Y

N

N

N

Y

Y

N

Y

N

N

N

N

Clinical suspicion of branchiootorenal syndrome

  1. Individuals’ identification number correlates with the pedigrees in Fig. 1. Full clinical details are provided in Supplementary Table S1.
  2. Br   branchial, Ca   cardiac, cDNA complementary DNA, Ch   choanal, Den   dental, DN   de novo, EE   external ears,F   family, FD   feeding difficulties, Gen   genitalia, gDNA genomic DNA, GI   gastrointestinal, GR   growth retardation, HL   hearing loss, Imm  immune system, ID   intellectual or learning disability, Lac   lacrimal,Ma   mammary, Mat   maternal, MD   motor delay, MRI-B   magnetic resonance imaging of brain,N   No anomaly or abnormality, NA   not applicable,NK   not known, Ocu   ocular, Pat   paternal, Pal   palatal, Ren  renal, SD   speech delay, Thy   thyroid,Y   yes anomaly or abnormality present.
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