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Table 4 Mutations of the ALPL gene found in our cohort

From: Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

phenotype of the patient

mutation 1

mutation 2

genotype of the patient

perinatal

p.Gln32* (c.94C > T)

c.648 + 1G > A

compound heterozygous

perinatal

p.Arg223Trp (c.667C > T)

p.Arg391Cys (c.1171C > T)

compound heterozygous

perinatal

p.Arg223Trp (c.667C > T)

p.Tyr441* (c.1323C > A)

compound heterozygous

perinatal

p.Ala433Gly (c.1328C > G)

p.Ala433Gly (c.1328C > G)

homozygous

infantile

p.Ala33Val (c.98C > T)

p.Ala40Val (c.119C > T)

compound heterozygous

infantile

p.Arg71Cys (c.211C > T)

p.Glu191Lys (c.571G > A)

compound heterozygous

infantile

p.Arg71Cys (c.211C > T)

p.Glu191Lys (c.571G > A)

compound heterozygous

infantile

p.Arg71His (c.212G > A)

p.Glu191Lys (c.571G > A)

compound heterozygous

infantile

p.Arg71His (c.212G > A)

p.Glu191Lys (c.571G > A)

compound heterozygous

infantile

p.Thr100Met (c.299C > T)

p.Glu191Lys (c.571G > A)

compound heterozygous

infantile

p.Thr141Ile (c.422C > T)

p.Arg428Pro (c.1283G > C)

compound heterozygous

infantile

p.Ala176Thr (c.526G > A)

p.Gly221Arg (c.661G > C)

compound heterozygous

infantile

p.Ala176Thr (c.526G > A)

p.Arg391Valfs (c.1117del)

compound heterozygous

infantile

p.Ala176Thr (c.526G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

infantile

p.Ala177Thr (c.529G > A)

p.Arg223Trp (c.667C > T)

compound heterozygous

infantile

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

infantile

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

infantile

p.Glu191Lys (c.571G > A)

p.Gly456Arg (c.1366G > A)

compound heterozygous

infantile

p.Arg223Trp (c.667C > T)

p.Gly249Val (c. 746G > T)

compound heterozygous

infantile

c.793-14_33del

c.793-14_33del

homozygous

infantile

p.Arg391His (c.1172G > A)

 

heterozygous

childhood

p.Thre68Met (c.203C > T)

p.Ala177Thr (c.529G > A)

compound heterozygous

childhood

p.Thre68Met (c.203C > T)

p.Glu191Lys (c.571G > A)

compound heterozygous

childhood

p.Tyr117Cys (c.350A > G)

p.Tyr236* (c.708 T > G)

compound heterozygous

childhood

p.Ala176Thr (c.526G > A)

p.Arg428* (c.1282C > T)

compound heterozygous

childhood

p.Ala177Thr (c.529G > A)

p.Leu275Pro (c.824 T > C)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Phe328del (c.984-986delCTT)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Gly334Asp (c.1001G > A)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Ala377Val (c.1130C > T)

compound heterozygous

childhood

p.Glu191Lys (c.571G > A)

p.Ala377Val (c.1130C > T)

compound heterozygous

childhood

p.Arg136His (c.407G > A)

 

heterozygous

childhood

p.Arg136His (c.407G > A)

 

heterozygous

childhood

p.Pro292Thr (c.874C > A)

 

heterozygous

childhood

p.Pro292Thr (c.874C > A)

 

heterozygous

childhood

p.Arg71Ser (c.211C > A)

 

heterozygous

childhood

p.Ala111Thr (c.331G > A)

 

heterozygous

childhood

p.Glu191Lys (c.571G > A)

 

heterozygous

childhood

p.Arg272Cys (c.817C > T)

 

heterozygous

childhood

p.Met295Thr (c.884 T > C))

 

heterozygous

childhood

p.Arg391Cys (c.1171C > T)

 

heterozygous

childhood

p.Arg391Cys (c.1171C > T)

 

heterozygous

childhood

p.Arg391Cys (c.1171C > T)

 

heterozygous

childhood

p.Asn417Ser (c.1250A > G)

 

heterozygous

childhood

p.Arg71Ser (c.211C > A)

 

heterozygous

childhood

n.k.

n.k.

n.k.

childhood

n.k.

n.k.

n.k.

  1. n.k. not known