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The neonatal patient harbored a mutation of c.1595G>T in 1 allele; B1, Absence of mutation in the patient's father; C1, The patient's mother harbored a heterozygous mutation of c.1187G>A; A2, The neonatal patient harbored a mutation of c.1187G>A in 1 allele; B2, The patient's father harbored a heterozygous mutation of c.1187G>A; C2, Absence of mutation in the patient's mother. Red arrow indicates the nucleotide position of the mutation.
